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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-39433185-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=39433185&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 39433185,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001370959.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"transcript": "NM_001370959.1",
"protein_id": "NP_001357888.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 720,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 6123,
"mane_select": "ENST00000518318.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370959.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"transcript": "ENST00000518318.7",
"protein_id": "ENSP00000430514.3",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 720,
"cds_start": 1222,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 6123,
"mane_select": "NM_001370959.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518318.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"transcript": "NM_007252.4",
"protein_id": "NP_009183.3",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 691,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007252.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"transcript": "ENST00000403058.6",
"protein_id": "ENSP00000384004.1",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 691,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403058.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Ala379Thr",
"transcript": "NM_001166018.2",
"protein_id": "NP_001159490.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 655,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166018.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Ala332Thr",
"transcript": "XM_047419843.1",
"protein_id": "XP_047275799.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 644,
"cds_start": 994,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 5943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419843.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Ala324Thr",
"transcript": "XM_047419845.1",
"protein_id": "XP_047275801.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 636,
"cds_start": 970,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 6140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "n.232G>A",
"hgvs_p": null,
"transcript": "ENST00000416452.1",
"protein_id": "ENSP00000404868.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "n.1192G>A",
"hgvs_p": null,
"transcript": "ENST00000520104.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000520104.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "n.1218G>A",
"hgvs_p": null,
"transcript": "ENST00000524147.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000524147.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "n.1071G>A",
"hgvs_p": null,
"transcript": "ENST00000673818.5",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000673818.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "n.*1222G>A",
"hgvs_p": null,
"transcript": "ENST00000673891.1",
"protein_id": "ENSP00000501205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "n.*1222G>A",
"hgvs_p": null,
"transcript": "ENST00000674059.1",
"protein_id": "ENSP00000500997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "n.*1222G>A",
"hgvs_p": null,
"transcript": "ENST00000673891.1",
"protein_id": "ENSP00000501205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"hgvs_c": "n.*1222G>A",
"hgvs_p": null,
"transcript": "ENST00000674059.1",
"protein_id": "ENSP00000500997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YAE1-DT",
"gene_hgnc_id": 55820,
"hgvs_c": "n.417-16821C>T",
"hgvs_p": null,
"transcript": "ENST00000728956.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000728956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YAE1-DT",
"gene_hgnc_id": 55820,
"hgvs_c": "n.346-16821C>T",
"hgvs_p": null,
"transcript": "ENST00000728957.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000728957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105375238",
"gene_hgnc_id": null,
"hgvs_c": "n.172-16821C>T",
"hgvs_p": null,
"transcript": "XR_927186.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 256,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_927186.2"
}
],
"gene_symbol": "POU6F2",
"gene_hgnc_id": 21694,
"dbsnp": "rs761860172",
"frequency_reference_population": 0.000061975305,
"hom_count_reference_population": 0,
"allele_count_reference_population": 100,
"gnomad_exomes_af": 0.0000643089,
"gnomad_genomes_af": 0.0000395127,
"gnomad_exomes_ac": 94,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30685269832611084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.418,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.19,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001370959.1",
"gene_symbol": "POU6F2",
"hgnc_id": 21694,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000728956.1",
"gene_symbol": "YAE1-DT",
"hgnc_id": 55820,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.417-16821C>T",
"hgvs_p": null
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "XR_927186.2",
"gene_symbol": "LOC105375238",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.172-16821C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}